ClinVar Miner

List of variants in gene PNPLA8 studied for Mitochondrial myopathy-lactic acidosis-deafness syndrome

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001256007.3(PNPLA8):c.1358+16T>C rs11971386 0.08285
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312 0.00311
NM_001256007.3(PNPLA8):c.1874A>G (p.His625Arg) rs1365563377 0.00001
NM_001256007.3(PNPLA8):c.373C>T (p.Arg125Cys) rs760704135 0.00001
NM_001256007.3(PNPLA8):c.1441G>A (p.Gly481Ser)
NM_001256007.3(PNPLA8):c.1452A>C (p.Thr484=)
NM_001256007.3(PNPLA8):c.1580G>A (p.Trp527Ter) rs1598909288
NM_001256007.3(PNPLA8):c.1614_1615insGG (p.Asn539fs)
NM_001256007.3(PNPLA8):c.1626-15del rs3214243
NM_001256007.3(PNPLA8):c.1637del (p.Gly546fs) rs2154515356
NM_001256007.3(PNPLA8):c.1844T>A (p.Phe615Tyr)
NM_001256007.3(PNPLA8):c.1904C>T (p.Pro635Leu) rs2154514825
NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys) rs1859698620
NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs) rs774184465
NM_001256007.3(PNPLA8):c.517G>T (p.Glu173Ter) rs1462456361
NM_001256007.3(PNPLA8):c.524del (p.Ser175fs)
NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs) rs786205882
NM_001256007.3(PNPLA8):c.870dup (p.Leu291fs)
NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)
NM_001256007.3(PNPLA8):c.944_945del (p.Lys314_Tyr315insTer) rs2154516696

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